Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are respons...

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Publicat a:Eur J Hum Genet
Autors principals: Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028936/
https://ncbi.nlm.nih.gov/pubmed/31591517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0522-2
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